Description: Alternative splicing removes the KDEL ER-retention motif of Prolyl 3-hydroxylase 1 (LEPRE1).
Participants: (1) Prolyl 3-hydroxylase 1 (LEPRE1) (2) ER lumen protein retaining receptor 1 (KDELR1)
(1) Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.Willaert et al. J. Med. Genet. (2009)
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